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ephb3, ras, af6, depends, milner, iwata, graf, marcovina, friedman, 9462510, s1074, 7613, 80457, marrow, stroma, inhibits, 32d, through, torok, storb, 9268641, geno, 4820, genomics, identification, cloning, critical, kuo, cochran, costa, pierpont, caused, 8794354, 9207788, zimrin, pepper, mcmahon, nguyen, montesano, 502, 8955070, antisense, oligonucleotide, fibroblast, induced, vitro, disibio, gossler, identify, pairs, 8058790, 8923452, mcne, 1996, 0040, neurosci, 46554750, 11745040, 1055, 19036, 525, dis, bonome, kamat, han, schmandt, coleman, gershenson, jaffe, birrer, sood, 17308118, 3700, 1757, alterations, profiling, invasive, ovarian, masiero, banham, harris, 25309874, 4174884, 3389, fonc, 00254, front, oncol, anti, therapy, dickson, mulligan, malley, 17507991, modpathol, 3800785, 685, mod, predict, outcome, bauer, laney, smith, gerfen, woyciechowski, garbarini, urban, gelb, goldmuntz, 601, 20437614, 2914103, 21231, 594, pulmonic, crosnier, driancourt, raynaud, dhorne, bernard, hadchouel, meunier, rotival, predominantly, sporadic, 10220506, s0016, 5085, 70017, 1141, gastroenterology, 11157803, defective, transport, processing, penton, leonard, 22306179, 3638987, semcdb, 010, 450, warthen, moore, kamath, lara, 2006, increasing, rate, 45080348, 16575836, 20310, 436, 9585603, 1377154, 1086, 301875, 1361, spectrum, frequency, their, families, humphreys, zheng, prince, brown, huppert, goudy, 22156581, 3465692, ddr575, 1374, ablation, recapitulates, craniofacial, pear, kaestner, epstein, 2008, 18245384, 2538864, 0709663105, 2008pnas, 1955h, 1955, required, smooth, muscle, koh, 21062863, 2976287, 052118, 4061, intrahepatic, bile, duct, insights, briot, enciso, ren, simons, wang, 23095891, 3509736, 084871, 4449, 139, deletion, murine, leads, calcification, congenital, defects, underkoffler, morabito, gottlieb, oakey, 10556292, correlates, cardiovascular, mccright, lozier, gridley, modifier, 11861489, simon, giordano, hammer, 22427350, 3848076, 1078, 0432, ccr, 2371, 2452, clin, upregulated, odorcic, chang, miller, mccready, 2005, 16166334, 1069, 8530, coexpression, observed, clement, wilson, 10978356, 1734694, 1136, jmg, embryos, kurokawa, september, 10958687, 88767, 1128, mcb, 6922, rapidly, induces, cleavage, nuclear, translocation, hyperphosphorylation, yazaki, november, 10551863, assessment, quantitative, methods, july, 11346656, m103473200, 25753, manic, lunatic, modify, sites, modulation, physical, 11006133, 3469, 385s, 385, guarnaccia, pintar, pongor, 34651925, 15358557, febslet, 022, 2004febsl, 156g, febs, lett, exon, autonomously, folding, unit, pike, okajima, 5775213, 9207787, shawber, 11720367, 7697721, 0092, 8674, 90294, 909, activates, grcm38, grch38, updated, expert, dual, publication, cited, grochowski, kathleen, nancy, wiki, review, series, 384, q28606584, 26548814, 4673022, 065, 381, 576, associations, implicated, specifically, correlated, rates, enhancement, multi, affecting, facial, most, significant, concerns, renal, problems, were, discovered, researchers, consistent, usually, smaller, half, did, inherit, either, parent, thus, include, truncating, whole, accounting, respectively, since, patient, thought, likely, mechanism, action, range, known, copy, between, severity, though, subset, clinical, signs, variable, expressivity, environmental, modifiers, beyond, nonsense, frameshift, splice, novo, institutes, health, children, hospital, philadelphia, kidneys, skeleton, turned, certain, used, study, specific, areas, shown, embryonic, lethal, only, limited, involving, targeted, exhibit, features, classic, those, highlighting, origins, endothelium, haploinsufficient, heterozygous, homozygous, helped, demonstrate, plays, effects, broad, adult, embryo, concentrated, around, mesocardium, cardic, major, arteries, generally, correlate, altered, otocyst, branchial, arches, metanephros, leucocytes, testis, thymus, kidney, lung, prostate, placenta, encoded, helps, determine, active, during, developmental, stages, respective, kicks, being, trafficked, nucleus, drosophila, able, activate, when, encoding, includes, motif, proceeded, containing, cystine, rich, dsl, finally, totaling, 1218, length, coding, exons, amino, acids, signal, peptide, egf, repeats, cloned, surface, interact, four, highly, conserved, functions, establish, regulate, decisions, once, interactions, take, place, triggered, downstream, located, multiple, causes, within, designated, ucsc, np_038850, np_000205, nm_013822, nm_000214, q9qxx0, p78504, uniprot, 16449, entrez, species, oma, databases, orthologs, sources, quickgo, amigo, aortic, hemopoiesis, migration, polymerase, myeloid, sheet, ventricle, myoblast, camera, determination, animal, nephron, osteoblast, auditory, blood, vessel, remodeling, communication, multicellular, organism, neuronal, maintenance, keratinocyte, nervous, aorta, ciliary, response, muramyl, dipeptide, septum, tubule, neuron, loop, henle, endocardial, cushion, glomerular, visceral, fat, biological, process, part, adherens, junction, phospholipid, structural, molecule, calcium, ion, molecular, ontology, biogps, layer, retina, umbilical, cord, molar, lens, epidermis, internal, primary, secondary, vulva, oral, cavity, urethra, palpebral, conjunctiva, penis, coronary, gingival, hip, thigh, bgee, pattern, 958, 564, 923, 673, 999, 637, 684, 5bo1, 4xi7, 4cc1, 4cc0, 4cbz, 2vj2, 2kb9, codes, rcsb, pdbe, genecards, 1095416, mgi, 601920, ids, abe2, gsfabe2, htu, ozz, ser, ags, ahd, aws, hj1, jagl1, ags1, dche, canonical, cmt2hh, aliases, identifiers, free, encyclopedia, item, projects, printable, download, pdf, print, export, switch, legacy, parser, get, shortened, url, permanent, link, what, here, general, actions, english, talk, українська, татарча, tatarça, русский, français, español, cymraeg, català, bosanski, personal, special, pages, recent, community, learn, help, contribute, random, current, events, navigation, jump, content,

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edit links article talk english read edit view history tools tools move to sidebar hide actions read edit view history general what links here related changes upload file permanent link page information cite this page get shortened url switch to legacy parser print export download as pdf printable version in other projects wikidata item appearance move to sidebar hide from wikipedia the free encyclopedia protein found in humans jag1 identifiers aliases jag1 jag1 abe2 gsfabe2 htu ozz ser 1 ags ahd aws cd339 hj1 jagl1 jagged 1 ags1 dche jagged canonical notch ligand 1 cmt2hh external ids omim 601920 mgi 1095416 genecards jag1 available structures pdb ortholog search pdbe rcsb list of pdb id codes 2kb9 2vj2 4cbz 4cc0 4cc1 4xi7 5bo1 gene location human chr chromosome 20 human 1 band 20p12 2 start 10 637 684 bp 1 end 10 673 999 bp 1 gene location mouse chr chromosome 2 mouse 2 band 2 f3 2 start 136 923 376 bp 2 end 136 958 564 bp 2 rna expression pattern bgee human mouse ortholog top expressed in skin of thigh skin of hip gingival epithelium right coronary artery human penis palpebral conjunctiva urethra oral cavity vulva hair follicle top expressed in secondary oocyte primary oocyte external carotid artery internal carotid artery epidermis epithelium of lens hair follicle molar umbilical cord neural layer of retina more reference expression data biogps more reference expression data gene ontology molecular function calcium ion binding structural molecule activity notch binding protein binding growth factor activity phospholipid binding cellular component integral component of membrane adherens junction plasma membrane apical part of cell integral component of plasma membrane extracellular region apical plasma membrane membrane biological process notch signaling pathway t cell mediated immunity negative regulation of fat cell differentiation pulmonary valve morphogenesis glomerular visceral epithelial cell development endocardial cushion cell development loop of henle development negative regulation of neuron differentiation distal tubule development pulmonary artery morphogenesis cardiac septum morphogenesis negative regulation of cell differentiation response to muramyl dipeptide ciliary body morphogenesis aorta morphogenesis nervous system development keratinocyte differentiation cardiac neural crest cell development involved in outflow tract morphogenesis neuronal stem cell population maintenance negative regulation of stem cell differentiation multicellular organism development cell communication blood vessel remodeling inner ear auditory receptor cell differentiation positive regulation of osteoblast differentiation regulation of cell population proliferation angiogenesis nephron development animal organ morphogenesis cell fate determination inner ear development endothelial cell differentiation camera type eye development myoblast differentiation cardiac right ventricle morphogenesis morphogenesis of an epithelial sheet positive regulation of myeloid cell differentiation positive regulation of notch signaling pathway positive regulation of transcription by rna polymerase ii notch signaling involved in heart development negative regulation of endothelial cell differentiation regulation of signaling receptor activity negative regulation of cell matrix adhesion negative regulation of cell cell adhesion negative regulation of cell migration hemopoiesis aortic valve morphogenesis cardiac epithelial to mesenchymal transition positive regulation of cardiac epithelial to mesenchymal transition negative regulation of notch signaling pathway sources amigo quickgo orthologs databases ncbi entry oma entry species human mouse entrez 182 16449 ensembl ensg00000101384 ensmusg00000027276 uniprot p78504 q9qxx0 refseq mrna nm_000214 nm_013822 refseq protein np_000205 np_038850 location ucsc chr 20 10 64 10 67 mb chr 2 136 92 136 96 mb pubmed search 3 4 wikidata view edit human view edit mouse jagged1 jag1 is one of five cell surface proteins ligands that interact with four receptors in the mammalian notch signaling pathway the notch signaling pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems once the jag1 notch receptor ligand interactions take place a cascade of proteolytic cleavages is triggered resulting in activation of the transcription for downstream target genes located on human chromosome 20 the jag1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder alagille syndrome algs resulting from loss of function mutations within the gene jag1 has also been designated as cd339 cluster of differentiation 339 structure and function edit jag1 was first identified as a ligand that was able to activate notch receptors when the rat gene jagged encoding a protein homolog was cloned in 1995 5 6 the structure of the jag1 protein includes a small intracellular component a transmembrane motif proceeded by an extracellular region containing a cystine rich region 16 egf like repeats a dsl domain and finally a signal peptide totaling 1218 amino acids in length over 26 coding exons 7 the jag1 protein encoded by jag1 is the human homolog of the drosophila jagged protein 5 human jag1 is one of five ligands for receptors in the notch signaling pathway which helps to determine cellular fate and is active during many developmental stages the extracellular component of the jag1 protein physically interacts with its respective notch receptor this interaction kicks off a cascade of proteolytic cleavages leading to the original notch intracellular domain being trafficked into the nucleus of the cell leading to the activation of different target genes 8 9 10 11 expression profile and mouse studies edit in situ hybridization and conditional gene knockout studies have helped to demonstrate the role jag1 plays in development and its effects on different organ systems in humans jag1 has broad expression in many tissue types including the pancreas heart placenta prostate lung kidney thymus testis and leucocytes in the adult 12 in a developing embryo jag1 expression is concentrated around the pulmonary artery mesocardium distal cardic outflow tract major arteries metanephros branchial arches pancreas the portal vein and otocyst 12 generally jag1 expression patterns correlate with organ systems affected in algs although not all tissues where jag1 is expressed are affected in algs more recently jag1 expression has been found to be altered in breast cancer and adrenocortical carcinoma patients 13 14 mouse models where the jag1 gene is turned off in certain tissues conditional knockout mouse models have been used to study the role of jag1 in many tissue specific areas while homozygous deletions of jag1 have been shown to be embryonic lethal in mice and heterozygous deletions may show only a limited phenotype involving the eye mice haploinsufficient for both jag1 and notch2 present with the algs phenotype 15 conditional gene knockout mouse models with jag1 mutations targeted to the portal vein mesenchyme endothelium and cranial neural crest all exhibit features classic to those in individuals with algs highlighting the role of this tissue type in disease origins 16 17 18 19 20 disease phenotype edit algs is an autosomal dominant multi system disorder affecting several body systems including the liver heart skeleton eye facial structure kidneys and vascular system the most clinically significant concerns stem from liver heart vascular or renal problems mutations in jag1 were first discovered to be responsible for algs by researchers at the children s hospital of philadelphia and the national institutes of health in 1997 6 patients who are clinically consistent with the disorder usually have a mutation in jag1 94 while a smaller 2 have a mutation in notch2 21 over half of individuals with mutations in the gene did not inherit it from either parent and thus have a de novo mutation 21 22 jag1 mutation types include protein truncating splice site frameshift and nonsense missense and whole gene deletions accounting for 80 7 and 12 respectively since all mutation types lead to a patient phenotype it is thought that haploinsufficiency for jag1 is the likely disease mechanism of action 23 24 25 although individuals can have a range of mutation types in jag1 all of the known mutations lead to loss of the function of one copy and there is no correlation between mutation type or location and disease severity though individuals with algs have several body systems affected there is a subset of individuals with jag1 mutations who present with tetralogy of fallot pulmonary stenosis that do not show the other clinical signs of the syndrome 26 given the variable expressivity of the disease there may be other genetic or environmental modifiers present beyond the original jag1 mutation more recently jag1 expression changes have been implicated in many types of cancer specifically up regulation of jag1 has been correlated with both poor overall breast cancer survival rates and an enhancement of tumor proliferation in adrenocortical carcinoma patients 13 27 28 29 see also edit notch signaling alagille syndrome autosomal dominant haploinsufficiency tetralogy of fallot in situ hybridization conditional gene knockout cluster of differentiation notes edit the version of this article was updated by an external expert under a dual publication model the corresponding academic peer reviewed article was published in gene and can be cited as grochowski c kathleen m loomes nancy b spinner 2015 jagged1 jag1 structure expression and disease associations gene gene wiki review series 576 1 pt 3 381 384 doi 10 1016 j gene 2015 10 065 pmc 4673022 pmid 26548814 wikidata q28606584 references edit 1 2 3 grch38 ensembl release 89 ensg00000101384 ensembl may 2017 1 2 3 grcm38 ensembl release 89 ensmusg00000027276 ensembl may 2017 human pubmed reference national center for biotechnology information u s national library of medicine mouse pubmed reference national center for biotechnology information u s national library of medicine 1 2 lindsell ce shawber cj boulter j weinmaster g 1995 jagged a mammalian ligand that activates notch1 cell 80 6 909 17 doi 10 1016 0092 8674 95 90294 5 pmid 7697721 s2cid 11720367 1 2 oda t elkahloun ag pike bl okajima k krantz id genin a piccoli da meltzer ps spinner nb collins fs chandrasekharappa sc 1997 mutations in the human jagged1 gene are responsible for alagille syndrome nat genet 16 3 235 42 doi 10 1038 ng0797 235 pmid 9207787 s2cid 5775213 guarnaccia c pintar a pongor s 2004 exon 6 of human jagged 1 encodes an autonomously folding unit febs lett 574 1 3 156 60 bibcode 2004febsl 574 156g doi 10 1016 j febslet 2004 08 022 pmid 15358557 s2cid 34651925 shimizu k chiba s saito t kumano k hirai h 2000 physical interaction of delta1 jagged1 and jagged2 with notch1 and notch3 receptors biochem biophys res commun 276 1 385 9 bibcode 2000bbrc 276 385s doi 10 1006 bbrc 2000 3469 pmid 11006133 shimizu k chiba s saito t kumano k takahashi t hirai h july 2001 manic fringe and lunatic fringe modify different sites of the notch2 extracellular region resulting in different signaling modulation j biol chem 276 28 25753 8 doi 10 1074 jbc m103473200 pmid 11346656 shimizu k chiba s kumano k hosoya n takahashi t kanda y hamada y yazaki y hirai h november 1999 mouse jagged1 physically interacts with notch2 and other notch receptors assessment by quantitative methods j biol chem 274 46 32961 9 doi 10 1074 jbc 274 46 32961 pmid 10551863 shimizu k chiba s hosoya n kumano k saito t kurokawa m kanda y hamada y hirai h september 2000 binding of delta1 jagged1 and jagged2 to notch2 rapidly induces cleavage nuclear translocation and hyperphosphorylation of notch2 mol cell biol 20 18 6913 22 doi 10 1128 mcb 20 18 6913 6922 2000 pmc 88767 pmid 10958687 1 2 jones ea clement jones m wilson di 2000 jagged1 expression in human embryos correlation with the alagille syndrome phenotype j med genet 37 9 658 62 doi 10 1136 jmg 37 9 658 pmc 1734694 pmid 10978356 1 2 reedijk m odorcic s chang l zhang h miller n mccready dr lockwood g egan se 2005 high level coexpression of jag1 and notch1 is observed in human breast cancer and is associated with poor overall survival cancer res 65 18 8530 7 doi 10 1158 0008 5472 can 05 1069 pmid 16166334 simon dp giordano tj hammer gd 2012 upregulated jag1 enhances cell proliferation in adrenocortical carcinoma clin cancer res 18 9 2452 64 doi 10 1158 1078 0432 ccr 11 2371 pmc 3848076 pmid 22427350 mccright b lozier j gridley t 2002 a mouse model of alagille syndrome notch2 as a genetic modifier of jag1 haploinsufficiency development 129 4 1075 82 doi 10 1242 dev 129 4 1075 pmid 11861489 loomes km underkoffler la morabito j gottlieb s piccoli da spinner nb baldwin hs oakey rj 1999 the expression of jagged1 in the developing mammalian heart correlates with cardiovascular disease in alagille syndrome hum mol genet 8 13 2443 9 doi 10 1093 hmg 8 13 2443 pmid 10556292 hofmann jj briot a enciso j zovein ac ren s zhang zw radtke f simons m wang y iruela arispe ml 2012 endothelial deletion of murine jag1 leads to valve calcification and congenital heart defects associated with alagille syndrome development 139 23 4449 60 doi 10 1242 dev 084871 pmc 3509736 pmid 23095891 hofmann jj zovein ac koh h radtke f weinmaster g iruela arispe ml 2010 jagged1 in the portal vein mesenchyme regulates intrahepatic bile duct development insights into alagille syndrome development 137 23 4061 72 doi 10 1242 dev 052118 pmc 2976287 pmid 21062863 high fa lu mm pear ws loomes km kaestner kh epstein ja 2008 endothelial expression of the notch ligand jagged1 is required for vascular smooth muscle development proc natl acad sci u s a 105 6 1955 9 bibcode 2008pnas 105 1955h doi 10 1073 pnas 0709663105 pmc 2538864 pmid 18245384 humphreys r zheng w prince ls qu x brown c 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